FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term geleophysic dysplasia 2 ID (Ontology) DOID:0111726 (Human Disease)
Definition A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1.
Also Known As "GPHYSD2"
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DO.org
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 Genes
 geleophysic dysplasia 2       2
 for disease ribbon | geleophysic dysplasia 2       2
 model of | geleophysic dysplasia 2       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
bone development disease        |
 |__geleophysic dysplasia_______|
                                geleophysic dysplasia 2  2 rec.
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Is a autosomal dominant disease
geleophysic dysplasia
Part of
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Synonyms
  • "GPHYSD2" EXACT OMO:0003012
Secondary IDs
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MIM:614185